Acute Abdominal Pain as the Initial Presentation of an Acquired C1 Inhibitor Deficiency

Abstract

Introduction: Acquired angioedema (AAE), a rare cause of adult-onset non-urticarial mucocutaneous angioedema, can present as acute abdomen, a frequent complaint in the emergency room (ER), often leading to unnecessary and potentially harmful procedures.

Case presentation: We report a 47-year-old hypertense male, controlled with an angiotensin converting enzyme inhibitor (ACEI), who presented in the ER with progressively worsening abdominal pain, nausea, and vomiting, and a radiologic workup revealing small intestine thickening, initially diagnosed with ACEI-induced angioedema. However, further investigation revealed low serum levels of C4, C1q, and C1 inhibitors, with an abnormal function of the latter, favoring the diagnosis of AAE instead. The frequent association of this condition with lymphoproliferative disorders encouraged further studies, which unveiled a monoclonal gammopathy IgM/Kappa, representing an increased risk of Waldenström macroglobulinemia, non-Hodgkin lymphoma, and multiple myeloma.

Discussion: AAE should be regarded as an important differential diagnosis in patients presenting with acute abdomen in the ER, especially when more common causes are excluded. A correct and early diagnosis may represent a chance for a better prognosis of underlying diseases.

Keywords: Abdominal pain; Angioedema; C1 esterase inhibitor; Lymphoproliferative disorders; Monoclonal gammopathy.

Fig. 1.

Contrasted computed tomography of the abdomen and pelvis performed in the emergency department revealing a continuous and concentric thickening of the small intestine with more than 10 cm of extension (*), particularly in the lower abdominal quadrants, engorgement of vasa recta (∆), and a moderate peritoneal effusion (α) (coronal plane).

Fig. 2.

Computed tomography enterography of the abdomen and pelvis performed before patient’s discharge without the previously observed abnormalities (identical coronal plane as Fig. 1).